• Gene id: 114034

Gene Summary

• Gene Symbol: TOE1   Gene   UCSC   Ensembl
• Aliases: PCH7, hCaf1z
• Gene name: target of EGR1, exonuclease
• Alternate names: target of EGR1 protein 1, target of EGR1, member 1 (nuclear),
• Gene location: 1p34.1 (127224470: 127393659)     Exons: 36     NC_000009.12
• OMIM: 613931

Protein Summary

• Protein general information: Q96GM8  
  • Name: Target of EGR1 protein 1
  • Length: 510  
  • Mass: 56548
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAADSDDGAVSAPAASDGGVSKSTTSGEELVVQVPVVDVQSNNFKEMWPSLLLAIKTANFVAVDTELSGLGDRKS
  LLNQCIEERYKAVCHAARTRSILSLGLACFKRQPDKGEHSYLAQVFNLTLLCMEEYVIEPKSVQFLIQHGFNFNQ
  QYAQGIPYHKGNDKGDESQSQSVRTLFLELIRARRPLVLHNGLIDLVFLYQNFYAHLPESLGTFTADLCEMFPAG
  IYDTKYAAEFHARFVASYLEYAFRKCERENGKQRAAGSPHLTLEFCNYPSSMRDHIDYRCCLPPATHRPHPTSIC
  DNFSAYGWCPLGPQCPQSHDIDLIIDTDEAAAEDKRRRRRRREKRKRALLNLPGTQTSGEAKDGPPKKQVCGDSI
  KPEETEQEVAADETRNLPHSKQGNKNDLEMGIKAARPEIADRATSEVPGSQASPNPVPGDGLHRAGFDAFMTGYV
  MAYVEVSQGPQPCSSGPWLPECHNKVYLSGKAVPLTVAKSQFSRSSKAHNQKMKLTWGSS

• Structural information:
  • Interpro: IPR006941  IPR012337  IPR036397  IPR000571  
  • Prosite: PS50103
  • PDB: 2FC6
  • PDBsum: 2FC6
  • STRING: ENSP00000361162
• Other Databases: GeneCards:  TOE1  Malacards:  TOE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034472	snRNA 3'-end processing	IBA	biological process
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0015030	Cajal body	IBA	cellular component
GO:0017069	snRNA binding	IBA	molecular function
GO:0017069	snRNA binding	IDA	molecular function
GO:0034472	snRNA 3'-end processing	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0004535	poly(A)-specific ribonuclease activity	IDA	molecular function
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray